A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122355



Internal ID18923041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:64477933..64492378hg38UCSC Ensembl
Outerchr1:64943616..64958061hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3814446
hg1914446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3970562
SamplesKWS2
Known GenesCACHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122355
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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