A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075996



Internal ID19322483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128030746..128033347hg38UCSC Ensembl
chr7:127670799..127673400hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg382602
hg192602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762694
SamplesKWP1
Known GenesLRRC4, SND1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075996
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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