A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981668



Internal ID18616865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74973810..74976663hg38UCSC Ensembl
Innerchr7:74855595..74858495hg19UCSC Ensembl
Innerchr7:74693531..74696431hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382854
hg192901
hg182901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2718054, nssv2718049, nssv2718053, nssv2718050, nssv2718051, nssv2718056, nssv2718055, nssv2718048, nssv2718052, nssv2718057
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGATSL1, GATSL2, GTF2IP1, PMS2P5
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981668
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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