A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608480



Internal ID16395889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140174287..140177127hg38UCSC Ensembl
Innerchr7:139874087..139876927hg19UCSC Ensembl
Innerchr7:139520556..139523396hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg382841
hg192841
hg182841
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1094820, nssv1094819
Samples
Known GenesKDM7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608480
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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