A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2763703



Internal ID17479564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:178821900..178851772hg38UCSC Ensembl
Innerchr1:178791035..178820907hg19UCSC Ensembl
Innerchr1:177057658..177087530hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3829873
hg1929873
hg1829873
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947455
Supporting Variants
SamplesHGDP00998
Known GenesANGPTL1, RALGPS2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2763703
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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