A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2463891



Internal ID17459240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73148819..73156302hg38UCSC Ensembl
Innerchr7:72562914..72570388hg19UCSC Ensembl
Innerchr7:72200850..72208324hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg387484
hg197475
hg187475
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv970529
Supporting Variants
SamplesHGDP00778
Known GenesGTF2IP1, LOC100093631
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2463891
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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