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dbVar

Database of genomic structural variation

nsv4374753

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:32,972

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: 342 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):20,875,402-20,908,373

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4374753	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	20,875,402	20,908,373
nsv4374753	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003315962.1	Chr19\|NW_0 03315962.1	218,678	251,649
nsv4374753	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	21,058,208	21,091,179

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15659716	copy number gain	4-0070-003	SNP array	Genotyping	24
nssv15660798	copy number gain	4-0034-003	SNP array	Genotyping	30

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15659716	Remapped	Perfect	NW_003315962.1:g.( ?_218678)_(251649_ ?)dup	GRCh38.p12	Second Pass	NW_003315962.1	Chr19\|NW_0 03315962.1	218,678	251,649
nssv15660798	Remapped	Perfect	NW_003315962.1:g.( ?_218678)_(251649_ ?)dup	GRCh38.p12	Second Pass	NW_003315962.1	Chr19\|NW_0 03315962.1	218,678	251,649
nssv15659716	Remapped	Perfect	NC_000019.10:g.(?_ 20875402)_(2090837 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	20,875,402	20,908,373
nssv15660798	Remapped	Perfect	NC_000019.10:g.(?_ 20875402)_(2090837 3_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	20,875,402	20,908,373
nssv15659716	Submitted genomic		NC_000019.9:g.(?_2 1058208)_(21091179 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	21,058,208	21,091,179
nssv15660798	Submitted genomic		NC_000019.9:g.(?_2 1058208)_(21091179 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	21,058,208	21,091,179

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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