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dbVar

Database of genomic structural variation

nsv4368218

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:22,038

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: 262 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):65,951,376-65,973,413

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4368218	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	65,951,376	65,973,413
nsv4368218	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	66,178,510	66,200,547

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15622275	copy number loss	1-0190-002	SNP array	Genotyping	23
nssv15650442	copy number loss	2-1480-002	SNP array	Genotyping	16
nssv15680256	copy number loss	222688	SNP array	Genotyping	20
nssv15691210	copy number loss	OCD29-B_JL-1243	SNP array	Genotyping	19
nssv15695794	copy number loss	205691	SNP array	Genotyping	20
nssv15698714	copy number loss	196896	SNP array	Genotyping	19

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15622275	Remapped	Perfect	NC_000002.12:g.(?_ 65951376)_(6597341 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,951,376	65,973,413
nssv15650442	Remapped	Perfect	NC_000002.12:g.(?_ 65951376)_(6597341 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,951,376	65,973,413
nssv15680256	Remapped	Perfect	NC_000002.12:g.(?_ 65951376)_(6597341 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,951,376	65,973,413
nssv15691210	Remapped	Perfect	NC_000002.12:g.(?_ 65951376)_(6597341 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,951,376	65,973,413
nssv15695794	Remapped	Perfect	NC_000002.12:g.(?_ 65951376)_(6597341 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,951,376	65,973,413
nssv15698714	Remapped	Perfect	NC_000002.12:g.(?_ 65951376)_(6597341 3_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	65,951,376	65,973,413
nssv15622275	Submitted genomic		NC_000002.11:g.(?_ 66178510)_(6620054 7_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,178,510	66,200,547
nssv15650442	Submitted genomic		NC_000002.11:g.(?_ 66178510)_(6620054 7_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,178,510	66,200,547
nssv15680256	Submitted genomic		NC_000002.11:g.(?_ 66178510)_(6620054 7_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,178,510	66,200,547
nssv15691210	Submitted genomic		NC_000002.11:g.(?_ 66178510)_(6620054 7_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,178,510	66,200,547
nssv15695794	Submitted genomic		NC_000002.11:g.(?_ 66178510)_(6620054 7_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,178,510	66,200,547
nssv15698714	Submitted genomic		NC_000002.11:g.(?_ 66178510)_(6620054 7_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	66,178,510	66,200,547

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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