A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3975580



Internal ID19236344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:139313950..139314015hg38UCSC Ensembl
Outerchr7:138998696..138998761hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124272
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3975580
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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