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dbVar

Database of genomic structural variation

nsv4371374

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:60,960

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: 901 SVs from 96 studies. See in: genome view

Remapped(Score: Perfect):11,350,222-11,411,181

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4371374	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	11,350,222	11,411,181
nsv4371374	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	11,503,156	11,564,115

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15623678	copy number loss	1-0271-003	SNP array	Genotyping	20
nssv15639202	copy number loss	14-0277-002	SNP array	Genotyping	19
nssv15694112	copy number loss	160594	SNP array	Genotyping	21

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15623678	Remapped	Perfect	NC_000012.12:g.(?_ 11350222)_(1141118 1_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,350,222	11,411,181
nssv15639202	Remapped	Perfect	NC_000012.12:g.(?_ 11350222)_(1141118 1_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,350,222	11,411,181
nssv15694112	Remapped	Perfect	NC_000012.12:g.(?_ 11350222)_(1141118 1_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	11,350,222	11,411,181
nssv15623678	Submitted genomic		NC_000012.11:g.(?_ 11503156)_(1156411 5_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	11,503,156	11,564,115
nssv15639202	Submitted genomic		NC_000012.11:g.(?_ 11503156)_(1156411 5_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	11,503,156	11,564,115
nssv15694112	Submitted genomic		NC_000012.11:g.(?_ 11503156)_(1156411 5_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	11,503,156	11,564,115

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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