A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695347



Internal ID15431999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:52413550..52421034hg38UCSC Ensembl
Innerchr6:52278348..52285832hg19UCSC Ensembl
Innerchr6:52386307..52393791hg18UCSC Ensembl
Innerchr6:52386307..52393791hg17UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg387485
hg197485
hg187485
hg177485
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517935
Supporting Variants
Samples
Known GenesEFHC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695347
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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