A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695041



Internal ID15085007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:173522345..173538672hg38UCSC Ensembl
Innerchr4:174443496..174459823hg19UCSC Ensembl
Innerchr4:174680071..174696398hg18UCSC Ensembl
Innerchr4:174818226..174834553hg17UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3816328
hg1916328
hg1816328
hg1716328
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522261
Supporting Variants
Samples
Known GenesHAND2, HAND2-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695041
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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