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dbVar

Database of genomic structural variation

nsv4383402

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:26,296

Publication(s):Zarrei et al. 2019

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: 294 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):121,347,633-121,373,928

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4383402	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	121,347,633	121,373,928
nsv4383402	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	120,683,328	120,709,623

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15616701	copy number loss	1-0876-004	SNP array	Genotyping	24
nssv15619278	copy number loss	1-0932-003	SNP array	Genotyping	21
nssv15697537	copy number loss	241423	SNP array	Genotyping	17

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15616701	Remapped	Perfect	NC_000005.10:g.(?_ 121347633)_(121373 928_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	121,347,633	121,373,928
nssv15619278	Remapped	Perfect	NC_000005.10:g.(?_ 121347633)_(121373 928_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	121,347,633	121,373,928
nssv15697537	Remapped	Perfect	NC_000005.10:g.(?_ 121347633)_(121373 928_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	121,347,633	121,373,928
nssv15616701	Submitted genomic		NC_000005.9:g.(?_1 20683328)_(1207096 23_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	120,683,328	120,709,623
nssv15619278	Submitted genomic		NC_000005.9:g.(?_1 20683328)_(1207096 23_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	120,683,328	120,709,623
nssv15697537	Submitted genomic		NC_000005.9:g.(?_1 20683328)_(1207096 23_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	120,683,328	120,709,623

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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