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dbVar

Database of genomic structural variation

nsv3120223

Organism: Homo sapiens

Study:nstd151 (Exome Aggregation Consortium CNVs)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:101,441

Description:qual score = 95
Publication(s):Exome Aggregation Consortium CNVs

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: 359 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):100,766,562-100,868,002

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3120223	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	100,766,562	100,868,002
nsv3120223	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	101,214,438	101,315,878

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv14157444	copy number loss	Sequencing	Read depth
nssv14162370	copy number gain	Sequencing	Read depth
nssv14166006	copy number gain	Sequencing	Read depth
nssv14166465	copy number loss	Sequencing	Read depth

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14157444	Remapped	Perfect	NC_000006.12:g.(?_ 100766562)_(100868 002_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	100,766,562	100,868,002
nssv14162370	Remapped	Perfect	NC_000006.12:g.(?_ 100766562)_(100868 002_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	100,766,562	100,868,002
nssv14166006	Remapped	Perfect	NC_000006.12:g.(?_ 100766562)_(100868 002_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	100,766,562	100,868,002
nssv14166465	Remapped	Perfect	NC_000006.12:g.(?_ 100766562)_(100868 002_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	100,766,562	100,868,002
nssv14157444	Submitted genomic		NC_000006.11:g.(?_ 101214438)_(101315 878_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	101,214,438	101,315,878
nssv14162370	Submitted genomic		NC_000006.11:g.(?_ 101214438)_(101315 878_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	101,214,438	101,315,878
nssv14166006	Submitted genomic		NC_000006.11:g.(?_ 101214438)_(101315 878_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	101,214,438	101,315,878
nssv14166465	Submitted genomic		NC_000006.11:g.(?_ 101214438)_(101315 878_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	101,214,438	101,315,878

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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