A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694165



Internal ID15430817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:147269886..147314277hg38UCSC Ensembl
Innerchr6:147591022..147635413hg19UCSC Ensembl
Innerchr6:147632715..147677106hg18UCSC Ensembl
Innerchr6:147632715..147677106hg17UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3844392
hg1944392
hg1844392
hg1744392
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522406
Supporting Variants
Samples
Known GenesSTXBP5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694165
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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