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dbVar

Database of genomic structural variation

nsv3318206

Organism: Homo sapiens

Study:nstd157 (Frenkel et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:8,667

Publication(s):Frenkel 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: 523 SVs from 66 studies. See in: genome view

Remapped(Score: Perfect):160,847,738-160,856,404

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3318206	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	160,847,738	160,856,404
nsv3318206	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	161,268,770	161,277,436

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14468167	copy number loss	M2132	SNP array	SNP genotyping analysis	25
nssv14468793	copy number gain	M2181	SNP array	SNP genotyping analysis	14
nssv14470168	copy number loss	M2318	SNP array	SNP genotyping analysis	12
nssv14470397	copy number loss	M2337	SNP array	SNP genotyping analysis	36
nssv14470825	copy number loss	M2383	SNP array	SNP genotyping analysis	23

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv14468167	Remapped	Perfect	NC_000006.12:g.(?_ 160847738)_(160856 404_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	160,847,738	160,856,404
nssv14468793	Remapped	Perfect	NC_000006.12:g.(?_ 160847738)_(160856 404_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	160,847,738	160,856,404
nssv14470168	Remapped	Perfect	NC_000006.12:g.(?_ 160847738)_(160856 404_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	160,847,738	160,856,404
nssv14470397	Remapped	Perfect	NC_000006.12:g.(?_ 160847738)_(160856 404_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	160,847,738	160,856,404
nssv14470825	Remapped	Perfect	NC_000006.12:g.(?_ 160847738)_(160856 404_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	160,847,738	160,856,404
nssv14468167	Submitted genomic		NC_000006.11:g.(?_ 161268770)_(161277 436_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	161,268,770	161,277,436
nssv14468793	Submitted genomic		NC_000006.11:g.(?_ 161268770)_(161277 436_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	161,268,770	161,277,436
nssv14470168	Submitted genomic		NC_000006.11:g.(?_ 161268770)_(161277 436_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	161,268,770	161,277,436
nssv14470397	Submitted genomic		NC_000006.11:g.(?_ 161268770)_(161277 436_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	161,268,770	161,277,436
nssv14470825	Submitted genomic		NC_000006.11:g.(?_ 161268770)_(161277 436_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	161,268,770	161,277,436

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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