A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3970180



Internal ID19238454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:61197746..61197797hg38UCSC Ensembl
Outerchr1:61663418..61663469hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133858
Supporting Variants
SamplesKWS2
Known GenesNFIA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3970180
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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