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dbVar

Database of genomic structural variation

nsv3145049

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:155,072

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: 303 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):72,985,060-73,140,131

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3145049	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	72,985,060	73,140,131
nsv3145049	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	72,696,105	72,851,176

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv14180797	copy number loss	Sequencing	Read depth
nssv14180798	copy number loss	Sequencing	Read depth
nssv14180799	copy number gain	Sequencing	Read depth
nssv14180800	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
nssv14180797	Remapped	Perfect	NC_000011.10:g.(?_ 72985060)_(7314013 1_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	72,985,060	73,140,131
nssv14180798	Remapped	Perfect	NC_000011.10:g.(?_ 72985060)_(7314013 1_?)del	GRCh38.p12	First Pass	NC_000011.10	Chr11	72,985,060	73,140,131
nssv14180799	Remapped	Perfect	NC_000011.10:g.(?_ 72985060)_(7314013 1_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	72,985,060	73,140,131
nssv14180800	Remapped	Perfect	NC_000011.10:g.(?_ 72985060)_(7314013 1_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	72,985,060	73,140,131
nssv14180797	Submitted genomic		NC_000011.9:g.(?_7 2696105)_(72851176 _?)del	GRCh37 (hg19)		NC_000011.9	Chr11	72,696,105	72,851,176
nssv14180798	Submitted genomic		NC_000011.9:g.(?_7 2696105)_(72851176 _?)del	GRCh37 (hg19)		NC_000011.9	Chr11	72,696,105	72,851,176
nssv14180799	Submitted genomic		NC_000011.9:g.(?_7 2696105)_(72851176 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	72,696,105	72,851,176
nssv14180800	Submitted genomic		NC_000011.9:g.(?_7 2696105)_(72851176 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	72,696,105	72,851,176

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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