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dbVar

Database of genomic structural variation

nsv3131580

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:83,495

Description:
See descriptions for individual calls in download files
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: 320 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):88,822,973-88,906,467

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3131580	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	88,822,973	88,906,467
nsv3131580	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	89,744,124	89,827,618

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv14132135	copy number loss	Sequencing	Read depth
nssv14136941	copy number loss	Sequencing	Read depth
nssv14140592	copy number loss	Sequencing	Read depth
nssv14142642	copy number loss	Sequencing	Read depth
nssv14149237	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
nssv14132135	Remapped	Perfect	NC_000004.12:g.(?_ 88822973)_(8890646 7_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	88,822,973	88,906,467
nssv14136941	Remapped	Perfect	NC_000004.12:g.(?_ 88822973)_(8890646 7_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	88,822,973	88,906,467
nssv14140592	Remapped	Perfect	NC_000004.12:g.(?_ 88822973)_(8890646 7_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	88,822,973	88,906,467
nssv14142642	Remapped	Perfect	NC_000004.12:g.(?_ 88822973)_(8890646 7_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	88,822,973	88,906,467
nssv14149237	Remapped	Perfect	NC_000004.12:g.(?_ 88822973)_(8890646 7_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	88,822,973	88,906,467
nssv14132135	Submitted genomic		NC_000004.11:g.(?_ 89744124)_(8982761 8_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	89,744,124	89,827,618
nssv14136941	Submitted genomic		NC_000004.11:g.(?_ 89744124)_(8982761 8_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	89,744,124	89,827,618
nssv14140592	Submitted genomic		NC_000004.11:g.(?_ 89744124)_(8982761 8_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	89,744,124	89,827,618
nssv14142642	Submitted genomic		NC_000004.11:g.(?_ 89744124)_(8982761 8_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	89,744,124	89,827,618
nssv14149237	Submitted genomic		NC_000004.11:g.(?_ 89744124)_(8982761 8_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	89,744,124	89,827,618

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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