A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032075



Internal ID18774609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:99829964..100185462hg38UCSC Ensembl
Innerchr6:100277840..100633338hg19UCSC Ensembl
Innerchr6:100384561..100740059hg18UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg38355499
hg19355499
hg18355499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6112n100
Supporting Variantsnssv3649849
Samples
Known GenesMCHR2, MCHR2-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032075
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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