A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971392



Internal ID18259926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73158673..73171148hg38UCSC Ensembl
Innerchr7:72572758..72585188hg19UCSC Ensembl
Innerchr7:72210694..72223124hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3812476
hg1912431
hg1812431
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2718300, nssv2718308, nssv2718307, nssv2718301, nssv2717771, nssv2718302, nssv2718304, nssv2718306, nssv2718305, nssv2718303
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGTF2IP1, LOC100093631
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971392
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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