A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705805



Internal ID15095771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:226597829..226736237hg38UCSC Ensembl
Innerchr1:226785530..226923938hg19UCSC Ensembl
Innerchr1:224852153..224990561hg18UCSC Ensembl
Innerchr1:223092265..223230673hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38138409
hg19138409
hg18138409
hg17138409
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522446
Supporting Variants
Samples
Known GenesC1orf95, ITPKB, ITPKB-IT1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705805
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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