A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608497



Internal ID16395906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:140176151..140178384hg38UCSC Ensembl
Innerchr7:139875951..139878184hg19UCSC Ensembl
Innerchr7:139522420..139524653hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg382234
hg192234
hg182234
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11625n54
Supporting Variantsnssv1094844, nssv1094846, nssv1094845, nssv1094843
Samples
Known GenesJHDM1D-AS1, KDM7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608497
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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