A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970530



Internal ID18259066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73191381..73192251hg38UCSC Ensembl
Innerchr7:72605421..72606291hg19UCSC Ensembl
Innerchr7:72243357..72244227hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38871
hg19871
hg18871
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2464101, nssv2464104, nssv2464105, nssv2464099, nssv2464106, nssv2464102, nssv2464107, nssv2464900, nssv2464103, nssv2464100
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGTF2IP1, LOC100093631
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970530
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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