A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701573



Internal ID15091539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:209711973..209739248hg38UCSC Ensembl
Innerchr1:209885318..209912593hg19UCSC Ensembl
Innerchr1:207951941..207979216hg18UCSC Ensembl
Innerchr1:206273713..206300988hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3827276
hg1927276
hg1827276
hg1727276
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525445
Supporting Variants
Samples
Known GenesHSD11B1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701573
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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