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dbVar

Database of genomic structural variation

nsv4374930

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:66,129

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: 559 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):95,058,722-95,124,850

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4374930	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	95,058,722	95,124,850
nsv4374930	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	94,313,721	94,379,849

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15621375	copy number gain	1-1015-001	SNP array	Genotyping	21
nssv15621778	copy number gain	1-1015-004	SNP array	Genotyping	23
nssv15630358	copy number gain	1-0609-002	SNP array	Genotyping	31

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15621375	Remapped	Perfect	NC_000023.11:g.(?_ 95058722)_(9512485 0_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	95,058,722	95,124,850
nssv15621778	Remapped	Perfect	NC_000023.11:g.(?_ 95058722)_(9512485 0_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	95,058,722	95,124,850
nssv15630358	Remapped	Perfect	NC_000023.11:g.(?_ 95058722)_(9512485 0_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	95,058,722	95,124,850
nssv15621375	Submitted genomic		NC_000023.10:g.(?_ 94313721)_(9437984 9_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	94,313,721	94,379,849
nssv15621778	Submitted genomic		NC_000023.10:g.(?_ 94313721)_(9437984 9_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	94,313,721	94,379,849
nssv15630358	Submitted genomic		NC_000023.10:g.(?_ 94313721)_(9437984 9_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	94,313,721	94,379,849

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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