A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004647



Internal ID19093864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:137374963..137775186hg38UCSC Ensembl
Innerchr2:138132533..138532756hg19UCSC Ensembl
Innerchr2:137849003..138249226hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38400224
hg19400224
hg18400224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582800
Samples
Known GenesTHSD7B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004647
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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