A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540399



Internal ID15158089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:57140959..57530097hg38UCSC Ensembl
Innerchr7:57208666..57589803hg19UCSC Ensembl
Innerchr7:57212608..57593745hg18UCSC Ensembl
Innerchr7:57019323..57400460hg17UCSC Ensembl
Cytoband7p11.1
Allele length
AssemblyAllele length
hg38389139
hg19381138
hg18381138
hg17381138
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464484
Supporting Variants
Samples1798860210_A
Known GenesGUSBP10, MIR3147, ZNF716
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)nssv540399
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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