A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526146



Internal ID18824427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:126792315..127321874hg38UCSC Ensembl
Innerchr12:127276861..127806419hg19UCSC Ensembl
Innerchr12:125842814..126372372hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38529560
hg19529559
hg18529559
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1040369
Supporting Variants
Samples
Known GenesLOC101927592, LOC440117
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3526146
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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