A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970822



Internal ID18606044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43997809..44009977hg38UCSC Ensembl
Innerchr7:44037408..44049576hg19UCSC Ensembl
Innerchr7:44003933..44016101hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3812169
hg1912169
hg1812169
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2708214, nssv2708213, nssv2445566, nssv2708212, nssv2445569, nssv2708208, nssv2445568, nssv2708215, nssv2445571, nssv2708217, nssv2708216, nssv2445573, nssv2445570, nssv2445572, nssv2445567, nssv2445565, nssv2708209, nssv2445574, nssv2708210, nssv2708211
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPOLR2J4, SPDYE1
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970822
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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