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dbVar

Database of genomic structural variation

nsv4369399

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:989,048

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: 10797 SVs from 119 studies. See in: genome view

Remapped(Score: Good):105,786,368-106,407,596

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4369399	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	105,786,368	106,407,596
nsv4369399	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187600.1	Chr14\|NT_1 87600.1	225,031	1,214,078
nsv4369399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	106,223,599	106,863,508

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15639715	copy number loss	14-0145-001	SNP array	Genotyping	23
nssv15640341	copy number loss	14-0145-005	SNP array	Genotyping	14

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15639715	Remapped	Pass	NT_187600.1:g.(?_2 25031)_(1214078_?) del	GRCh38.p12	First Pass	NT_187600.1	Chr14\|NT_1 87600.1	225,031	1,214,078
nssv15640341	Remapped	Pass	NT_187600.1:g.(?_2 25031)_(1214078_?) del	GRCh38.p12	First Pass	NT_187600.1	Chr14\|NT_1 87600.1	225,031	1,214,078
nssv15639715	Remapped	Good	NC_000014.9:g.(?_1 05786368)_(1064075 96_?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	105,786,368	106,407,596
nssv15640341	Remapped	Good	NC_000014.9:g.(?_1 05786368)_(1064075 96_?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	105,786,368	106,407,596
nssv15639715	Submitted genomic		NC_000014.8:g.(?_1 06223599)_(1068635 08_?)del	GRCh37 (hg19)		NC_000014.8	Chr14	106,223,599	106,863,508
nssv15640341	Submitted genomic		NC_000014.8:g.(?_1 06223599)_(1068635 08_?)del	GRCh37 (hg19)		NC_000014.8	Chr14	106,223,599	106,863,508

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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