A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3982387



Internal ID19214677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:1637207..1641307hg38UCSC Ensembl
OuterchrY:1706100..1710200hg19UCSC Ensembl
CytobandYp11.32
Allele length
AssemblyAllele length
hg384101
hg194101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145299
Supporting Variants
SamplesKWS1
Known GenesASMT
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3982387
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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