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dbVar

Database of genomic structural variation

nsv3147839

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:151,407

Description:qual score = 93
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: 352 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):59,364,456-59,515,862

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3147839	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	59,364,456	59,515,862
nsv3147839	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	59,131,929	59,283,335

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv14182672	copy number gain	Sequencing	Read depth
nssv14182673	copy number gain	Sequencing	Read depth
nssv14182674	copy number gain	Sequencing	Read depth

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14182672	Remapped	Perfect	NC_000011.10:g.(?_ 59364456)_(5951586 2_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	59,364,456	59,515,862
nssv14182673	Remapped	Perfect	NC_000011.10:g.(?_ 59364456)_(5951586 2_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	59,364,456	59,515,862
nssv14182674	Remapped	Perfect	NC_000011.10:g.(?_ 59364456)_(5951586 2_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	59,364,456	59,515,862
nssv14182672	Submitted genomic		NC_000011.9:g.(?_5 9131929)_(59283335 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	59,131,929	59,283,335
nssv14182673	Submitted genomic		NC_000011.9:g.(?_5 9131929)_(59283335 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	59,131,929	59,283,335
nssv14182674	Submitted genomic		NC_000011.9:g.(?_5 9131929)_(59283335 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	59,131,929	59,283,335

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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