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dbVar

Database of genomic structural variation

nsv4378836

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:989,060

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: 9225 SVs from 117 studies. See in: genome view

Remapped(Score: Good):105,786,368-106,290,273

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4378836	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	105,786,368	106,290,273
nsv4378836	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187600.1	Chr14\|NT_1 87600.1	225,019	1,214,078
nsv4378836	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	106,223,587	106,746,867

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15642042	copy number loss	15-1128-001	SNP array	Genotyping	25
nssv15642523	copy number loss	15-1120-004	SNP array	Genotyping	27

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15642042	Remapped	Pass	NT_187600.1:g.(?_2 25019)_(1214078_?) del	GRCh38.p12	First Pass	NT_187600.1	Chr14\|NT_1 87600.1	225,019	1,214,078
nssv15642523	Remapped	Pass	NT_187600.1:g.(?_2 25019)_(1214078_?) del	GRCh38.p12	First Pass	NT_187600.1	Chr14\|NT_1 87600.1	225,019	1,214,078
nssv15642042	Remapped	Good	NC_000014.9:g.(?_1 05786368)_(1062902 73_?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	105,786,368	106,290,273
nssv15642523	Remapped	Good	NC_000014.9:g.(?_1 05786368)_(1062902 73_?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	105,786,368	106,290,273
nssv15642042	Submitted genomic		NC_000014.8:g.(?_1 06223587)_(1067468 67_?)del	GRCh37 (hg19)		NC_000014.8	Chr14	106,223,587	106,746,867
nssv15642523	Submitted genomic		NC_000014.8:g.(?_1 06223587)_(1067468 67_?)del	GRCh37 (hg19)		NC_000014.8	Chr14	106,223,587	106,746,867

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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