A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3975975



Internal ID19238312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:112428523..112428580hg38UCSC Ensembl
Outerchr7:112068578..112068635hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1137282
Supporting Variants
SamplesKWS2
Known GenesIFRD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3975975
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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