A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074517



Internal ID18977523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:73112676..73173760hg38UCSC Ensembl
chr7:72526999..72587800hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3861085
hg1960802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772241
SamplesKWP1
Known GenesGTF2IP1, LOC100093631
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074517
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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