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dbVar

Database of genomic structural variation

nsv3132672

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:160,458

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: 719 SVs from 82 studies. See in: genome view

Remapped(Score: Perfect):65,334,958-65,495,415

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3132672	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	65,334,958	65,495,415
nsv3132672	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	66,044,851	66,205,308

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv14151408	copy number loss	Sequencing	Read depth
nssv14153218	copy number loss	Sequencing	Read depth
nssv14161525	copy number gain	Sequencing	Read depth
nssv14163998	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
nssv14151408	Remapped	Perfect	NC_000006.12:g.(?_ 65334958)_(6549541 5_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	65,334,958	65,495,415
nssv14153218	Remapped	Perfect	NC_000006.12:g.(?_ 65334958)_(6549541 5_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	65,334,958	65,495,415
nssv14161525	Remapped	Perfect	NC_000006.12:g.(?_ 65334958)_(6549541 5_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	65,334,958	65,495,415
nssv14163998	Remapped	Perfect	NC_000006.12:g.(?_ 65334958)_(6549541 5_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	65,334,958	65,495,415
nssv14151408	Submitted genomic		NC_000006.11:g.(?_ 66044851)_(6620530 8_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	66,044,851	66,205,308
nssv14153218	Submitted genomic		NC_000006.11:g.(?_ 66044851)_(6620530 8_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	66,044,851	66,205,308
nssv14161525	Submitted genomic		NC_000006.11:g.(?_ 66044851)_(6620530 8_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	66,044,851	66,205,308
nssv14163998	Submitted genomic		NC_000006.11:g.(?_ 66044851)_(6620530 8_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	66,044,851	66,205,308

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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