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dbVar

Database of genomic structural variation

nsv4375749

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:37,848

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: 2308 SVs from 95 studies. See in: genome view

Remapped(Score: Perfect):46,110,126-46,147,965

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4375749	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	46,110,126	46,147,965
nsv4375749	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	850,072
nsv4375749	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	44,187,492	44,225,331

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15616827	copy number gain	1-0809-003	SNP array	Genotyping	33
nssv15645933	copy number gain	2-0295-003	SNP array	Genotyping	21
nssv15647092	copy number gain	2-0299-005	SNP array	Genotyping	26

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15616827	Remapped	Good	NT_187663.1:g.(?_8 12225)_(850072_?)d up	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	850,072
nssv15645933	Remapped	Good	NT_187663.1:g.(?_8 12225)_(850072_?)d up	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	850,072
nssv15647092	Remapped	Good	NT_187663.1:g.(?_8 12225)_(850072_?)d up	GRCh38.p12	Second Pass	NT_187663.1	Chr17\|NT_1 87663.1	812,225	850,072
nssv15616827	Remapped	Perfect	NC_000017.11:g.(?_ 46110126)_(4614796 5_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,110,126	46,147,965
nssv15645933	Remapped	Perfect	NC_000017.11:g.(?_ 46110126)_(4614796 5_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,110,126	46,147,965
nssv15647092	Remapped	Perfect	NC_000017.11:g.(?_ 46110126)_(4614796 5_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	46,110,126	46,147,965
nssv15616827	Submitted genomic		NC_000017.10:g.(?_ 44187492)_(4422533 1_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,187,492	44,225,331
nssv15645933	Submitted genomic		NC_000017.10:g.(?_ 44187492)_(4422533 1_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,187,492	44,225,331
nssv15647092	Submitted genomic		NC_000017.10:g.(?_ 44187492)_(4422533 1_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	44,187,492	44,225,331

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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