A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971397



Internal ID18606617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75221527..75235698hg38UCSC Ensembl
Innerchr7:74637245..74651404hg19UCSC Ensembl
Innerchr7:74275181..74289340hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3814172
hg1914160
hg1814160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2719442, nssv2717247, nssv2717249, nssv2719439, nssv2717244, nssv2719440, nssv2717246, nssv2719441, nssv2717248, nssv2717245
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)nsv971397
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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