A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540354



Internal ID15508172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:40055042..40157569hg38UCSC Ensembl
Innerchr7:40094641..40197168hg19UCSC Ensembl
Innerchr7:40061166..40163693hg18UCSC Ensembl
Innerchr7:39867881..39970408hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38102528
hg19102528
hg18102528
hg17102528
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464437
Supporting Variants
SamplesHGDP00778
Known GenesC7orf10, CDK13, MPLKIP
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)nssv540354
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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