A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173857



Internal ID15526073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54653842..54684791hg38UCSC Ensembl
Innerchr1:55119515..55150464hg19UCSC Ensembl
Innerchr1:54892103..54923052hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3830950
hg1930950
hg1830950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546299
Supporting Variants
SamplesHGDP00031
Known GenesMROH7, MROH7-TTC4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173857
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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