A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1029135



Internal ID15535635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:40796644..40848701hg38UCSC Ensembl
Innerchr5:40796746..40848803hg19UCSC Ensembl
Innerchr5:40832503..40884560hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3852058
hg1952058
hg1852058
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv597877
Supporting Variants
Samples
Known GenesCARD6, LOC100506548, PRKAA1, RPL37, SNORD72
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1029135
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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