A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971393



Internal ID18259927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73182162..73190033hg38UCSC Ensembl
Innerchr7:72596202..72604073hg19UCSC Ensembl
Innerchr7:72234138..72242009hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387872
hg197872
hg187872
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2718316, nssv2718312, nssv2718315, nssv2718314, nssv2718320, nssv2718317, nssv2718318, nssv2718319, nssv2718311, nssv2718313
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)nsv971393
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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