A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037721



Internal ID18780252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99577771..99758416hg38UCSC Ensembl
Innerchr12:99971549..100152194hg19UCSC Ensembl
Innerchr12:98495680..98676325hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38180646
hg19180646
hg18180646
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1549n100
Supporting Variantsnssv3712594
Samples
Known GenesANKS1B, FAM71C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1037721
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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