A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705184



Internal ID15095150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152338225..152339849hg38UCSC Ensembl
Innerchr7:152035310..152036934hg19UCSC Ensembl
Innerchr7:151666243..151667867hg18UCSC Ensembl
Innerchr7:151472958..151474582hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg381625
hg191625
hg181625
hg171625
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517255
Supporting Variants
Samples
Known GenesKMT2C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705184
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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