A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv966848



Internal ID18255391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74597857..74599385hg38UCSC Ensembl
Innerchr7:74012184..74013712hg19UCSC Ensembl
Innerchr7:73650120..73651648hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381529
hg191529
hg181529
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2463576, nssv2463571, nssv2463575, nssv2463572, nssv2463573, nssv2463574, nssv2463577, nssv2463578, nssv2463579, nssv2464372
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGTF2IRD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv966848
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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