A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688189



Internal ID15078155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212994430..213005954hg38UCSC Ensembl
Innerchr2:213859154..213870678hg19UCSC Ensembl
Innerchr2:213567399..213578923hg18UCSC Ensembl
Innerchr2:213684660..213696184hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3811525
hg1911525
hg1811525
hg1711525
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517070
Supporting Variants
Samples
Known GenesIKZF2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688189
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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