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dbVar

Database of genomic structural variation

nsv4366300

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:27,877

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: 292 SVs from 68 studies. See in: genome view

Remapped(Score: Perfect):17,268,327-17,293,513

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4366300	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	17,268,327	17,293,513
nsv4366300	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_011332688.1	Chr1\|NW_01 1332688.1	110,841	138,717
nsv4366300	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	17,594,822	17,620,008

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15658577	copy number gain	3-0534-000	SNP array	Genotyping	23
nssv15678369	copy number gain	208583	SNP array	Genotyping	20
nssv15679247	copy number gain	205647	SNP array	Genotyping	22
nssv15702031	copy number gain	200422	SNP array	Genotyping	14

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15658577	Remapped	Pass	NW_011332688.1:g.( ?_110841)_(138717_ ?)dup	GRCh38.p12	Second Pass	NW_011332688.1	Chr1\|NW_01 1332688.1	110,841	138,717
nssv15678369	Remapped	Pass	NW_011332688.1:g.( ?_110841)_(138717_ ?)dup	GRCh38.p12	Second Pass	NW_011332688.1	Chr1\|NW_01 1332688.1	110,841	138,717
nssv15679247	Remapped	Pass	NW_011332688.1:g.( ?_110841)_(138717_ ?)dup	GRCh38.p12	Second Pass	NW_011332688.1	Chr1\|NW_01 1332688.1	110,841	138,717
nssv15702031	Remapped	Pass	NW_011332688.1:g.( ?_110841)_(138717_ ?)dup	GRCh38.p12	Second Pass	NW_011332688.1	Chr1\|NW_01 1332688.1	110,841	138,717
nssv15658577	Remapped	Perfect	NC_000001.11:g.(?_ 17268327)_(1729351 3_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	17,268,327	17,293,513
nssv15678369	Remapped	Perfect	NC_000001.11:g.(?_ 17268327)_(1729351 3_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	17,268,327	17,293,513
nssv15679247	Remapped	Perfect	NC_000001.11:g.(?_ 17268327)_(1729351 3_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	17,268,327	17,293,513
nssv15702031	Remapped	Perfect	NC_000001.11:g.(?_ 17268327)_(1729351 3_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	17,268,327	17,293,513
nssv15658577	Submitted genomic		NC_000001.10:g.(?_ 17594822)_(1762000 8_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,594,822	17,620,008
nssv15678369	Submitted genomic		NC_000001.10:g.(?_ 17594822)_(1762000 8_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,594,822	17,620,008
nssv15679247	Submitted genomic		NC_000001.10:g.(?_ 17594822)_(1762000 8_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,594,822	17,620,008
nssv15702031	Submitted genomic		NC_000001.10:g.(?_ 17594822)_(1762000 8_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	17,594,822	17,620,008

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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