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dbVar

Database of genomic structural variation

nsv3565960

Organism: Homo sapiens

Study:nstd152 (Chaisson et al. 2019)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:1

Description:Insertion of a Alu mobile element relative to the reference
Publication(s):Chaisson et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 777 SVs from 32 studies. See in: genome view

Submitted genomic2,578,880-2,578,910

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3565960	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	2,578,895 (-15, +15)	2,578,895 (-15, +15)
nsv3565960	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	2,496,936 (-15, +15)	2,496,936 (-15, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14350921	alu insertion	HG00512	Sequencing	Sequence alignment	Heterozygous	13,827
nssv14350922	alu insertion	SAMN00006466	Sequencing	Sequence alignment	Heterozygous	14,137
nssv14350923	alu insertion	HG00514	Sequencing	Sequence alignment	Heterozygous	39,861
nssv14350924	alu insertion	SAMN00006579	Sequencing	Sequence alignment	Heterozygous	13,953
nssv14350925	alu insertion	SAMN00006580	Sequencing	Sequence alignment	Heterozygous	14,212
nssv14350926	alu insertion	SAMN00006581	Sequencing	Sequence alignment	Heterozygous	41,185
nssv14350927	alu insertion	SAMN00001694	Sequencing	Sequence alignment	Heterozygous	16,419
nssv14350928	alu insertion	SAMN00001695	Sequencing	Sequence alignment	Heterozygous	15,732
nssv14350929	alu insertion	SAMN00001696	Sequencing	Sequence alignment	Heterozygous	45,591

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14350921	Submitted genomic		NC_000023.11:g.(25 78880_2578910)_(25 78880_2578910)ins2 79	GRCh38 (hg38)		NC_000023.11	ChrX	2,578,895 (-15, +15)	2,578,895 (-15, +15)
nssv14350922	Submitted genomic		NC_000023.11:g.(25 78880_2578910)_(25 78880_2578910)ins2 79	GRCh38 (hg38)		NC_000023.11	ChrX	2,578,895 (-15, +15)	2,578,895 (-15, +15)
nssv14350923	Submitted genomic		NC_000023.11:g.(25 78880_2578910)_(25 78880_2578910)ins2 79	GRCh38 (hg38)		NC_000023.11	ChrX	2,578,895 (-15, +15)	2,578,895 (-15, +15)
nssv14350924	Submitted genomic		NC_000023.11:g.(25 78880_2578910)_(25 78880_2578910)ins2 79	GRCh38 (hg38)		NC_000023.11	ChrX	2,578,895 (-15, +15)	2,578,895 (-15, +15)
nssv14350925	Submitted genomic		NC_000023.11:g.(25 78880_2578910)_(25 78880_2578910)ins2 79	GRCh38 (hg38)		NC_000023.11	ChrX	2,578,895 (-15, +15)	2,578,895 (-15, +15)
nssv14350926	Submitted genomic		NC_000023.11:g.(25 78880_2578910)_(25 78880_2578910)ins2 79	GRCh38 (hg38)		NC_000023.11	ChrX	2,578,895 (-15, +15)	2,578,895 (-15, +15)
nssv14350927	Submitted genomic		NC_000023.11:g.(25 78880_2578910)_(25 78880_2578910)ins2 79	GRCh38 (hg38)		NC_000023.11	ChrX	2,578,895 (-15, +15)	2,578,895 (-15, +15)
nssv14350928	Submitted genomic		NC_000023.11:g.(25 78880_2578910)_(25 78880_2578910)ins2 79	GRCh38 (hg38)		NC_000023.11	ChrX	2,578,895 (-15, +15)	2,578,895 (-15, +15)
nssv14350929	Submitted genomic		NC_000023.11:g.(25 78880_2578910)_(25 78880_2578910)ins2 79	GRCh38 (hg38)		NC_000023.11	ChrX	2,578,895 (-15, +15)	2,578,895 (-15, +15)
nssv14350921	Remapped	Perfect	NC_000023.10:g.(24 96921_2496951)_(24 96921_2496951)ins2 79	GRCh37.p13	First Pass	NC_000023.10	ChrX	2,496,936 (-15, +15)	2,496,936 (-15, +15)
nssv14350922	Remapped	Perfect	NC_000023.10:g.(24 96921_2496951)_(24 96921_2496951)ins2 79	GRCh37.p13	First Pass	NC_000023.10	ChrX	2,496,936 (-15, +15)	2,496,936 (-15, +15)
nssv14350923	Remapped	Perfect	NC_000023.10:g.(24 96921_2496951)_(24 96921_2496951)ins2 79	GRCh37.p13	First Pass	NC_000023.10	ChrX	2,496,936 (-15, +15)	2,496,936 (-15, +15)
nssv14350924	Remapped	Perfect	NC_000023.10:g.(24 96921_2496951)_(24 96921_2496951)ins2 79	GRCh37.p13	First Pass	NC_000023.10	ChrX	2,496,936 (-15, +15)	2,496,936 (-15, +15)
nssv14350925	Remapped	Perfect	NC_000023.10:g.(24 96921_2496951)_(24 96921_2496951)ins2 79	GRCh37.p13	First Pass	NC_000023.10	ChrX	2,496,936 (-15, +15)	2,496,936 (-15, +15)
nssv14350926	Remapped	Perfect	NC_000023.10:g.(24 96921_2496951)_(24 96921_2496951)ins2 79	GRCh37.p13	First Pass	NC_000023.10	ChrX	2,496,936 (-15, +15)	2,496,936 (-15, +15)
nssv14350927	Remapped	Perfect	NC_000023.10:g.(24 96921_2496951)_(24 96921_2496951)ins2 79	GRCh37.p13	First Pass	NC_000023.10	ChrX	2,496,936 (-15, +15)	2,496,936 (-15, +15)
nssv14350928	Remapped	Perfect	NC_000023.10:g.(24 96921_2496951)_(24 96921_2496951)ins2 79	GRCh37.p13	First Pass	NC_000023.10	ChrX	2,496,936 (-15, +15)	2,496,936 (-15, +15)
nssv14350929	Remapped	Perfect	NC_000023.10:g.(24 96921_2496951)_(24 96921_2496951)ins2 79	GRCh37.p13	First Pass	NC_000023.10	ChrX	2,496,936 (-15, +15)	2,496,936 (-15, +15)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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