A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043188



Internal ID18785719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:126669642..127074964hg38UCSC Ensembl
Innerchr12:127154188..127559509hg19UCSC Ensembl
Innerchr12:125720141..126125462hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38405323
hg19405322
hg18405322
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526144
Samples
Known GenesLINC00943, LINC00944, LOC101927592, LOC440117
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043188
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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