A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122348



Internal ID18916599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:56776934..56777273hg38UCSC Ensembl
Outerchr1:57242607..57242946hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982450, nssv3970555
SamplesKWS1, KWS2
Known GenesC1orf168
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122348
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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