A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3505672



Internal ID18457267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:89194660..89232372hg38UCSC Ensembl
Innerchr10:90954417..90992129hg19UCSC Ensembl
Innerchr10:90944397..90982109hg18UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg3837713
hg1937713
hg1837713
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1038123
Supporting Variants
Samples
Known GenesCH25H, LIPA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3505672
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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