A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160657



Internal ID19303341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51639362..51644944hg38UCSC Ensembl
Outerchr19:51639099..51651652hg38UCSC Ensembl
Innerchr19:52142615..52148197hg19UCSC Ensembl
Outerchr19:52142352..52154905hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3812554
hg1912554
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040012, nssv4039975, nssv4039952, nssv4039971, nssv4040017, nssv4040020, nssv4039981, nssv4039962, nssv4040008, nssv4039973, nssv4040003, nssv4040019, nssv4039992, nssv4040011, nssv4040027, nssv4040024, nssv4040036, nssv4039969, nssv4039991, nssv4039986, nssv4039987, nssv4039967, nssv4039995, nssv4039983, nssv4039984, nssv4039970, nssv4039978, nssv4039990, nssv4039977, nssv4039985, nssv4039966, nssv4039989, nssv4040014, nssv4040013, nssv4039996, nssv4040016, nssv4039998, nssv4039979, nssv4040015, nssv4039959, nssv4039993, nssv4039954, nssv4039988, nssv4040005, nssv4039960, nssv4040029, nssv4039963, nssv4039953, nssv4040031, nssv4040037, nssv4040021, nssv4040030, nssv4040022, nssv4040002, nssv4040038, nssv4039972, nssv4040010, nssv4039949, nssv4040026, nssv4039951, nssv4039956, nssv4039961, nssv4039994, nssv4040007, nssv4039957, nssv4040004, nssv4039976, nssv4039948, nssv4039950, nssv4039999, nssv4040033, nssv4039980, nssv4040028, nssv4039968, nssv4040018, nssv4040023, nssv4039964, nssv4040001, nssv4039947, nssv4039997, nssv4039974, nssv4040034, nssv4039955, nssv4040000, nssv4039965, nssv4039982, nssv4040035, nssv4040032, nssv4040025, nssv4039958, nssv4040009, nssv4040006
Samples
Known GenesSIGLEC14
MethodSNP array
Analysis1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)nsv1160657
Frequency
Sample Size369
Observed Gain1
Observed Loss91
Observed Complex0
Frequencyn/a


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