A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971396



Internal ID18606616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74870875..74887039hg38UCSC Ensembl
Innerchr7:74286969..74303151hg19UCSC Ensembl
Innerchr7:73924905..73941087hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3816165
hg1916183
hg1816183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2718349, nssv2718354, nssv2718350, nssv2718351, nssv2718346, nssv2718348, nssv2718347, nssv2718345, nssv2718352, nssv2718353
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSTAG3L2
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971396
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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