A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971395



Internal ID18606615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74734343..74736564hg38UCSC Ensembl
Innerchr7:74148685..74150906hg19UCSC Ensembl
Innerchr7:73786621..73788842hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382222
hg192222
hg182222
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2718339, nssv2718340, nssv2718341, nssv2718335, nssv2718334, nssv2718343, nssv2718337, nssv2718336, nssv2718342, nssv2718338
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGTF2I
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971395
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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