A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970458



Internal ID18605680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:34710594..34712554hg38UCSC Ensembl
Innerchr7:34750206..34752166hg19UCSC Ensembl
Innerchr7:34716731..34718691hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381961
hg191961
hg181961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2442661, nssv2442659, nssv2442665, nssv2442658, nssv2442657, nssv2442664, nssv2442663, nssv2442656, nssv2442662, nssv2442660
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNPSR1, NPSR1-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970458
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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