A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970844



Internal ID18606066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:56936911..56985130hg38UCSC Ensembl
Innerchr7:57004618..57052837hg19UCSC Ensembl
Innerchr7:57008560..57056779hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3848220
hg1948220
hg1848220
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2451677, nssv2451678, nssv2451672, nssv2451669, nssv2451676, nssv2451675, nssv2451674, nssv2451670, nssv2451673, nssv2451671
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMIR4283-1, MIR4283-2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970844
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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