A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970537



Internal ID18259073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74950165..74969799hg38UCSC Ensembl
Innerchr7:74862503..74882163hg19UCSC Ensembl
Innerchr7:74700439..74720099hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3819635
hg1919661
hg1819661
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2465231, nssv2718068, nssv2465234, nssv2465229, nssv2465228, nssv2718067, nssv2465237, nssv2465232, nssv2718069, nssv2718063, nssv2465235, nssv2718064, nssv2718060, nssv2718061, nssv2465236, nssv2465233, nssv2718062, nssv2718066, nssv2718065, nssv2465230
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGATSL1, GATSL2, GTF2IP1, PMS2P5
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970537
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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