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dbVar

Database of genomic structural variation

nsv2781950

Organism: Homo sapiens

Study:nstd133 (Redin et al. 2016)
Variant Type:complex chromosomal rearrangement
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Publication(s):Redin et al. 2016

Links to Other Resources

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: 164 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):178,043,835-178,043,835

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781950	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	178,043,835	178,043,835	+
nsv2781950	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	178,043,837	178,043,837	-
nsv2781950	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	194,225,340	194,225,340	-
nsv2781950	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	194,225,342	194,225,342	+
nsv2781950	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	178,012,970	178,012,970	+
nsv2781950	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	178,012,972	178,012,972	-
nsv2781950	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	194,194,470	194,194,470	-
nsv2781950	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	194,194,472	194,194,472	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660412	inversion	ROC55	Sequencing	Split read and paired-end mapping	SCV000320946	nssv13660413
nssv13660413	inversion	ROC55	Sequencing	Split read and paired-end mapping	SCV000320946	nssv13660412

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv13660412	Remapped	Perfect	NC_000001.11:g.178 043835inv462NC_000 001.11:g.194225340 inv462	GRCh38.p12	First Pass	NC_000001.11	Chr1	178,043,835	178,043,835
nssv13660413	Remapped	Perfect	NC_000001.11:g.178 043837inv494NC_000 001.11:g.194225342 inv494	GRCh38.p12	First Pass	NC_000001.11	Chr1	178,043,837	178,043,837
nssv13660412	Remapped	Perfect	NC_000001.11:g.178 043835inv462NC_000 001.11:g.194225340 inv462	GRCh38.p12	First Pass	NC_000001.11	Chr1	194,225,340	194,225,340
nssv13660413	Remapped	Perfect	NC_000001.11:g.178 043837inv494NC_000 001.11:g.194225342 inv494	GRCh38.p12	First Pass	NC_000001.11	Chr1	194,225,342	194,225,342
nssv13660412	Submitted genomic		[NC_000001.10:g.17 8012970inv462];[NC _000001.10:g.19419 4470inv462]	GRCh37 (hg19)		NC_000001.10	Chr1	178,012,970	178,012,970
nssv13660413	Submitted genomic		[NC_000001.10:g.17 8012972inv494];[NC _000001.10:g.19419 4472inv494]	GRCh37 (hg19)		NC_000001.10	Chr1	178,012,972	178,012,972
nssv13660412	Submitted genomic		[NC_000001.10:g.17 8012970inv462];[NC _000001.10:g.19419 4470inv462]	GRCh37 (hg19)		NC_000001.10	Chr1	194,194,470	194,194,470
nssv13660413	Submitted genomic		[NC_000001.10:g.17 8012972inv494];[NC _000001.10:g.19419 4472inv494]	GRCh37 (hg19)		NC_000001.10	Chr1	194,194,472	194,194,472

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Clinical Interpretation	ClinVar ID	Gender	Other Calls in this Sample and Study
nssv13660412	ROC55	GRCh37: [NC_000001.10:g.178012970inv462];[NC_000001.10:g.194194470inv462]	inversion		SCV000320946	Male	nssv13660413
nssv13660413	ROC55	GRCh37: [NC_000001.10:g.178012972inv494];[NC_000001.10:g.194194472inv494]	inversion		SCV000320946	Male	nssv13660412

No genotype data were submitted for this variant

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