A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017991



Internal ID19107208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:131331684..131471005hg38UCSC Ensembl
Innerchr7:131016443..131155764hg19UCSC Ensembl
Innerchr7:130666983..130806304hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38139322
hg19139322
hg18139322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6616n100
Supporting Variantsnssv3662187
Samples
Known GenesMKLN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017991
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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