A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3764605



Internal ID19308633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:62462729..62662830hg38UCSC Ensembl
chrX:61682199..61882300hg19UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg38200102
hg19200102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1078672
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3764605
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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