A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970464



Internal ID18605686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:36228586..36229086hg38UCSC Ensembl
Innerchr7:36268195..36268695hg19UCSC Ensembl
Innerchr7:36234720..36235220hg18UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2707229, nssv2708037, nssv2707228, nssv2443609, nssv2443614, nssv2443617, nssv2707241, nssv2707231, nssv2707232, nssv2443612, nssv2707243, nssv2707238, nssv2707239, nssv2443611, nssv2707233, nssv2443615, nssv2708039, nssv2443616, nssv2707242, nssv2443608, nssv2707236, nssv2707235, nssv2707230, nssv2443610, nssv2707227, nssv2708038, nssv2707240, nssv2707234, nssv2443613, nssv2708036
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEEPD1
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970464
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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