A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033250



Internal ID19122472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:131369169..131462692hg38UCSC Ensembl
Innerchr7:131053928..131147451hg19UCSC Ensembl
Innerchr7:130704468..130797991hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg3893524
hg1993524
hg1893524
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6621n100
Supporting Variantsnssv3662201
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)nsv1033250
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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