A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582673



Internal ID16023396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110099666..110224953hg38UCSC Ensembl
Innerchr2:110857243..110982530hg19UCSC Ensembl
Innerchr2:110214532..110339819hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38125288
hg19125288
hg18125288
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7001n54
Supporting Variantsnssv916055, nssv1150475, nssv1150477, nssv1150473, nssv1150474, nssv1150478, nssv916056, nssv1150471, nssv916054, nssv1150472, nssv1150476
SamplesHGDP00234, HGDP01308, HGDP01261, HGDP00594, HGDP01191, 1780862390_A, 1782681316_A, NINDS_236
Known GenesLINC00116, MALL, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582673
Frequency
Sample Size17421
Observed Gain8
Observed Loss3
Observed Complex0
Frequencyn/a


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