A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2757174



Internal ID17794880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70564056..70594470hg38UCSC Ensembl
Innerchr2:70791188..70821602hg19UCSC Ensembl
Innerchr2:70644696..70675110hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3830415
hg1930415
hg1830415
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961755
Supporting Variants
SamplesHGDP00778
Known Genes
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2757174
Frequency
Sample Size10
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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