A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541742



Internal ID15504455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:6567841..7017391hg38UCSC Ensembl
Innerchr9:6567841..7017391hg19UCSC Ensembl
Innerchr9:6557841..7007391hg18UCSC Ensembl
Innerchr9:6557841..7007391hg17UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38449551
hg19449551
hg18449551
hg17449551
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466111
Supporting Variants
Samples1782681216_A
Known GenesGLDC, KDM4C
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv541742
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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